Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105766248A>G , CM000676.2:g.105766248A>G | GRCh38 |
| NC_000014.8:g.106232585A>G , CM000676.1:g.106232585A>G | GRCh37 |
| NC_000014.7:g.105303630A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641136.1:c.1257-251T>C |